The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study.

BACKGROUND: Management of spinal muscular atrophy (SMA) has progressed enormously and reached unprecedented levels with nusinersen gene therapy. We are finally able to counter the progression of this devastating genetic disease, contributing to the definition of new trajectories in its natural history and the identification of new SMA phenotypes post-gene therapy. The aim of this paper was to use the The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study (ICF-CY) as a comprehensive documentation tool to better understand and improve care provided to a child with SMA and to illustrate its use in a multidisciplinary perspective with a proof-of-concept study. CASE REPORT: An SMA child under gene therapy receiving a rehabilitation program. Clinical and functional outcome measures assessed at all levels of the ICF-CY, including impairment by Hammersmith Infant Neurological Examination, activity by Hammersmith Functional Motor Scale and Functional Independence Measure for Children, and participation by Pediatric Quality of Life Inventory™ - PedsQL™ and Neuromuscular Module™ as well as by parent report. Treatment outcomes were assessed at two main time points: at T0: prior to administration of nusinersen, and T1: immediately before the first administration of maintenance doses, 6 months after the first administration of nusinersen. A significant clinical improvement was seen on all domains between T0 and T1. The patient improved especially in motor skills and motor disability severity. The HRQOL showed a substantial improvement, too. ICF-CY codes were used to document change in body functions or structures, performance of activities or participation in social roles both in terms of gradient and hierarchy of change. This proof-of-concept study is the first attempt to explore SMA in a comprehensive manner from the perspective of the ICF-CY using a selected set of codes. These codes define essential child dimensions that can make up an ICF-CY core set, as identified by a trained multidisciplinary team, to guide assessment, treatment and rehabilitation. CLINICAL REHABILITATION IMPACT: Although limited to a single patient, this study makes nonetheless a strong point: we suggest using the ICF-CY as an essential tool in SMA management at a time when gene therapy with nusinersen is changing the phenotypes of activity and functioning in these children.

Multidisciplinary rehabilitation for patients with cerebral palsy: improving long-term care.

Cerebral palsy (CP) is one of the most frequent causes of child disability in developed countries. Children with CP need lifelong assistance and care. The current prevalence of CP in industrialized countries ranges from 1.5 to 2.5 per 1,000 live births, with one new case every 500 live births. Children with CP have an almost normal life expectancy and mortality is very low. Despite the low mortality rate, 5%-10% of them die during childhood, especially when the severe motor disability is comorbid with epilepsy and severe intellectual disability. Given this life expectancy, children with CP present with a lifelong disability of varying severity and complexity, which requires individualized pathways of care. There are no specific treatments that can remediate the brain damage responsible for the complex clinical-functional dysfunctions typical of CP. There are, however, a number of interventions (eg, neurorehabilitation, functional orthopedic surgery, medication, etc) aimed at limiting the damage secondary to the brain insult and improving these patients' activity level and participation and, therefore, their quality of life. The extreme variability of clinical aspects and the complexity of affected functions determine a multifaceted skill development in children with CP. There is a need to provide them with long-term care, taking into account medical and social aspects as well as rehabilitation, education, and assistance. This long-term care must be suited according to children's developmental stage and their physical, psychological, and social development within their life contexts. This impacts heavily on the national health systems which must set up a network of services for children with CP, and it also impacts heavily on the family as a whole, due to the resulting distress, adjustment efforts, and changes in quality of life. This contribution is a narrative review of the current literature on long-term care for children with CP, aiming at suggesting reflections to improve these children's care.

Functional classifications for cerebral palsy: correlations between the gross motor function classification system (GMFCS), the manual ability classification system (MACS) and the communication function classification system (CFCS).

This study aimed to investigate a possible correlation between the gross motor function classification system-expanded and revised (GMFCS-E&R), the manual abilities classification system (MACS) and the communication function classification system (CFCS) functional levels in children with cerebral palsy (CP) by CP subtype. It was also geared to verify whether there is a correlation between these classification systems and intellectual functioning (IF) and parental socio-economic status (SES). A total of 87 children (47 males and 40 females, age range 4-18 years, mean age 8.9±4.2) were included in the study. A strong correlation was found between the three classifications: Level V of the GMFCS-E&R corresponds to Level V of the MACS (rs=0.67, p=0.001); the same relationship was found for the CFCS and the MACS (rs=0.73, p<0.001) and for the GMFCS-E&R and the CFCS (rs=0.61, p=0.001). The correlations between the IQ and the global functional disability profile were strong or moderate (GMFCS and IQ: rs=0.66, p=0.001; MACS and IQ: rs=0.58, p=0.001; CFCS and MACS: rs=0.65, p=0.001). The Kruskal-Wallis test was used to determine if there were differences between the GMFCS-E&R, the CFCS and the MACS by CP type. CP types showed different scores for the IQ level (Chi-square=8.59, df=2, p=0.014), the GMFCS-E&R (Chi-square=36.46, df=2, p<0.001), the CFCS (Chi-square=12.87, df=2, p=0.002), and the MACS Level (Chi-square=13.96, df=2, p<0.001) but no significant differences emerged for the SES (Chi-square=1.19, df=2, p=0.554). This study shows how the three functional classifications (GMFCS-E&R, CFCS and MACS) complement each other to provide a better description of the functional profile of CP. The systematic evaluation of the IQ can provide useful information about a possible future outcome for every functional level. The SES does not appear to affect functional profiles.